ClinVar Miner

Submissions for variant NM_005154.5(USP8):c.952_955dup (p.Pro319fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002867115 SCV003240553 uncertain significance Hereditary spastic paraplegia 2022-09-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with USP8-related conditions. This sequence change creates a premature translational stop signal (p.Pro319Hisfs*9) in the USP8 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in USP8 cause disease. This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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